Statements (52)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genodermatosis
|
| gptkbp:associatedWith |
eczema
psoriasis squamous cell carcinoma palmoplantar keratoderma |
| gptkbp:causedBy |
mutation in the ATP2A2 gene
|
| gptkbp:characteristics |
cobblestone appearance of skin
dyskeratotic cells seborrheic keratosis-like lesions acantholysis |
| gptkbp:demographics |
1 in 30,000
|
| gptkbp:diseaseResistance |
genetic testing
clinical examination |
| gptkbp:firstDescribedBy |
Jean_Darier
|
| gptkbp:geneticDiversity |
ATP2A2
chromosome 12q23.1 |
| gptkbp:historicalSignificance |
contributed to understanding of keratinization
first genetic skin disease identified influenced dermatological genetics named_after_Jean_Darier |
| https://www.w3.org/2000/01/rdf-schema#label |
Darier disease
|
| gptkbp:impact |
corticosteroids
laser therapy topical retinoids oral retinoids |
| gptkbp:nobleFamily |
autosomal dominant
|
| gptkbp:occursAnnually |
childhood to early adulthood
|
| gptkbp:populationTrend |
both males and females
|
| gptkbp:relatedPatent |
hyperpigmentation
secondary infections scarring hypopigmentation ichthyosis lichen planus pachyonychia congenita pemphigus vulgaris psychosocial impact Hailey-Hailey_disease |
| gptkbp:researchFocus |
gene therapy
improving quality of life understanding pathophysiology new treatment modalities |
| gptkbp:riskManagement |
stress
hormonal changes family history sun exposure |
| gptkbp:symptoms |
skin lesions
itching foul-smelling odor keratotic papules nail abnormalities |
| gptkbp:type |
skin disorder
|